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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Pro84_Cys104delinsSerValLeuGluValArgTrpProSerGlyLeuArgGlnArgLeuArgArgAlaArgLeuSer;Pro106_Glu113delinsGlnAspValLeuProGlyArg]
CA2573320455
ENST00000559340.2:c.249_250del